Essay Sample on Hypothetical Genetic Defects

Introduction

The following is a list of hypothetical genetic defects in immunity. For each one, list the type of infections that a person with the defect would be expected to suffer from, and if the defect would be predicted to be minimal (possibly a normal life), mild (able to live a normal lifespan, but with increased infections), moderate (shortened lifespan and/or need for lifelong treatment), or severe (likely to be lethal in childhood).

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The Complete Absence of Toll-Like Receptor 5(TLR5)

Toll-like receptor 5 (TLR5) is protein in humans encoded by toll-like receptor 5 gene. Majorly toll-like receptor 5 recognizes flagellin bacteria from attacking mobile bacteria (1). A person with this defect is likely to suffer from inflammatory bowel disease, ovarian, gastric, cervical and endometrial cancer (2). These defects are likely to be moderate. Therefore, it means a shortened lifespan and the need for lifelong treatment (3).

The Complete Absence Of TLR3

Toll-like receptor 3 (TLR3) is protein in humans encoded by toll-like receptor 3 gene. It is also referred to as a cluster of differentiation (4). TLR 3 plays an important role in activation of innate immunity and recognition of pathogens (5). Additionally, TLR 3 mediates the formation of cytokines that take part in effective immunity development. The absence of TLR 3 means low immunity (6). The defect is mild and patients are able to live a normal lifespan, but with increased infections

An Inactive Mutant Of MyD88

MyD88 (Myeloid differentiation factor) is an important and a universal signalling protein in interleukin-1 receptor and Toll-like receptor (9). The absence of inactive mutant MyD88 leads to a persistent pyogenic bacterial infection. Most patients die between 2 and 11 months of age. On the contrary, surviving patients are usually resistant to other microbes and healthy (10). The defects are likely to be severe and likely to be lethal in childhood

The Complete Absence Of TLR10

Toll-like receptor 10 (TLR10) is protein in humans encoded by toll-like receptor 10 gene. Never the less, TLR 10 has not been studied extensively because in mice, it is a pseudogene. Majorly TLR10 suppresses inflammatory signalling on primary human cells (9). It also plays a role in the activation of innate immunity and pathogen recognition (10). The complete absence of TLR 10 means an individual will not be immune to pathogens. The defects are likely to be minimal.

References

1. Kao Y, Ffrench R, Williams G. Polymorphism report: identification of two common single nucleotide polymorphisms in the human toll-like receptor 5 (TLR5) genes. Molecular and Cellular Probes. 2004; 18(3):205.

2. Choi J, Song P, Ko Y. Clinical Significance of Toll-Like Receptor and Toll-Like Receptor Blocker. Urogenital Tract Infection. 2016; 11(1):1.

3. Matsumoto M, Funami K, Oshiumi H, Seya T. Toll-Like Receptor 3: A Link between Toll-Like Receptor, Interferon and Viruses. Microbiology and Immunology. 2004; 48(3):147-154.

4. Hervas-Stubbs S, Olivier A, Boisgerault F, Thieblemont N, Leclerc C. TLR3 ligand stimulates fully functional memory CD8+ T cells in the absence of CD4+ T-cell help. Blood. 2007; 109(12):5318-5326.

5. Choe J. Crystal Structure of Human Toll-Like Receptor 3 (TLR3) Ectodomain. Science. 2005; 309(5734):581-585.

6. Kautza B, Stratimirovics S, Zuckerbraun B. Toll Like Receptor-3 (TLR3) And Mitochondrial Antiviral Signaling Protein (MAVS) Regulate Responses To Hypoxia In Hepatocytes. Journal of Surgical Research. 2014; 186(2):510.

7. Hosoi T, Yokoyama S, Matsuo S, Akira S, Ozawa K. Myeloid Differentiation Factor 88 (MyD88)-Deficiency Increases Risk of Diabetes in Mice. PLoS ONE. 2010; 5(9):e12537.

8. Du Y, Zhang L, Huang B, Guan X, Li L, Zhang G. Molecular Cloning, Characterization, and Expression of Two Myeloid Differentiation Factor 88 (Myd88) in Pacific Oyster,Crassostrea gigas. Journal of the World Aquaculture Society. 2013; 44(6):759-774.

9. Bergman I, Edman K, Ekdahl K, Rosengren K, Edfors I. Extensive polymorphism in the porcine Toll-like receptor 10 gene. International Journal of Immunogenetics. 2011; 39(1):68-76.

10. Dhir R. Sequence Variants in Toll-Like Receptor Gene Cluster (TLR6-TLR1-TLR10) and Prostate Cancer Risk. Yearbook of Pathology and Laboratory Medicine. 2006; 2006:149-150.